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Greetings,

It’s been a while since I last posted on this message board. And since that time I’ve had a “mixed bag” of experiences (regarding treatment). So, I thought I’d make a post and share for any who had previously identified w/ my current situation. Since my last post, it has been determined that my RYR1 mutation is a novel mutation (in the US anyway), and as such, nobody to compare my “Awake Symptoms” w/ at this point. That being said, I’ve had several family members undergo the genetic testing and they were also found to have the same novel RYR1 mutation; however, none have had been dx’d w/ MH, nor have they had any intra-operative episodes of MH. That being said, I did find it striking (though not sure if it’s statistically significant) that some family members did suffer from some of the same “MH Awake Symptoms” (http://patients.mhaus.org/index.cfm/fuseaction/Content.Display/PagePK/PatientAwakeSymptoms.cfm)

Beyond that, I spent a bit of time up at the Mayo Clinic w/ a wonderful doctor (Margherita Milone, M.D., Ph.D.); however, the short-version of my visit was many “rule-outs” (which I guess is still information) and apparently I have a much lower threshold for muscle cramps than the average person. That being said, Dr. Milone (though admittedly not an MH expert) stated that perhaps I need to consider altering my perspective from my MH RYR1 mutation being the cause of my primary muscle issues (pain, stiffness, systemic/pervasive cramping) .. . . but rather the MH syndrome and the Muscles Symptoms may be co-existing symptoms of something yet undiscovered . . . now I realize that doesn’t sound very reassuring; however, it did cause me to broaden my thinking from an “only cause & effect relationship” to “some sort of disorder that has MH & muscle symptoms as co-existing symptoms.” Anyway, in the absence of definitive info, this is better than nothing.

Regarding medications, I’ve taken a variety to assist w/ the cramping & pain . . . and no bananas weren’t in the formulary ?. In any case, because muscle cramping & pain have prevented me from sleeping (beyond 45 minutes at a time, for years) . . . I had been taking Restoril & Dantrolene . . . and these seem to be successful in helping me to better sleep through the night. That being said, Dantrolene is a VERY harsh medication w/ MANY undesirable side-effects . . .so, it’s very difficult for me to take this medication (and be fully functional) during the day time. So, in lieu of taking the Dantrolene during the day (to reduce the amount of cramping/pain) I have taken Morphine (ER & IR) for an extended period of time (for pain/not cramping). But again, there are many side-effects that go along w/ Morphine . . . and going off it for any period is miserable (1) withdrawal effects and (2) muscle pain returns immediately after the Morphine leaves the system. So, I’ve yet to find anything that is able to provide relief (from the cramping, stiffness, & pain) while at the same time permit me to be fully functional (& employable) throughout the day. Blah, blah, blah.

So, the short is that I’m now at least able to sleep (mostly) through the night . . . and since my wife and I recently (again) moved (because of her career field) I’m in the process of going off any day time meds to see if I’m able to hold a full time job. It’s been a year since I’ve last worked . . . so, I’m not sure how this will work.

Hope this is somehow helpful/insightful for others who may identify w/ similar issues.

Respectfully,

Steve

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Dear Steve:

I too have a novel mutation on #24 on the RYR1 gene as does my daughter, father, sister and paternal cousin. I have Central Core Disease diagnosed via a muscle biopsy where the cores were seen. So Far they do not. As you know MH is prevelant with CCD. Have you gotten tested for it or has any doctor raised the possibility. Muscle cramps are a issue with CCD and I also have the day symptoms as well. I would be happy tp speak to you in regard to this. Linda

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Hi linda and dave,, I have been trying to get a diagnosis for a condition called andersen tawil syndrome. Which is supposedly quite rare..It is a type of potassium ion channelopathy related to different types of muscular dystrophy,, i am about to send my dna to the university of Ulm to dr. lehman horn to see if he can find a genetic mutation for me,,I knew that malignant hyperthermia has been associated with muscular dystrophy,, only just recently did i find out that when my brother almost died seven years ago that he suffered from a malignant hyperthermia episode that almost ended his life,,i also found out with a little more snooping that a cousin of mine also had a run in with malignant hyperthermia about fifteen years ago,, Aparently no one in my family thought it was important enough to mention it to me..when i saw the specialist in march he didnt think i had enough evidence to justify a genetic test.. I have long suspected that i had some type of complication during my gall bladder surgery 25 years ago but was never informed by the medical staff of any problems.. I woke up screaming and tearing off my oxygen mask..I meet most of the physical signs of andersen tawil small jaw, wide nose, hypertelorism curvy toes etc etc,, but due to no positive signs on tests no genetics were ordered,, i do believe if i had known about the malignant hyperthermia my outcome would have been different in march,, i am of french canadian descent all the way back to the 1600s on my mothers side both grandfather and grandmother..have the muscle symptoms of opmd but they started quite young I also have awake symptoms,, caffeine reallysets me off into too hot to handle busting out in a sweat and muscle tightness.. for some persons it can progress into a full paralysis but for me it is more like a partial paralysi that rectifys when i supplement my potassium level,,, andersens is also treated with dantrolene or acetazolimide..ive been trying to notify family members about the susceptibility to malignant hyperthermia but no one seems to be taking me seriously.. just want to come and ask some questions and learn about this condition,, karen

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I have found it best not to change my surrounding tempatures. I worked in high heat and would suffer from leaving the building "new england" weather. I also found severe cramping getting out of my hot tub during the winter.. My legs would be almost like pieces of boards, I would be so stiff!

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I had out patient surgery recently and ended up in the hospital for 10 days..I went to having severe pain under my ribs and a 103 temp withing 24-48 hours...My oxigen level went to dropping into the 80's within a few days.. By the time everyone around me realised what was going on and I went to the ER my ox level was 78...I was out of it from lack of ox...My mom keep coming over with her pulse oximeter and checking me...I wasn't sick before my surgery (Biopsy on Tognue)...I am now afraid and want to know what happened...Can you help me..I have spoke to several nurses and they even ask a doctor who puts people out and he said it sounded like a delayed case of malignant hyperthermia....

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Also, I ended up in the hospital for 10 days...Since then I am having bad sweats and I am having bad cramps in my hands and feet...It eases up if I take a Potassium pill...And since then I don't have to hardly do anything and my heart rate jumps up to 140...My ox levels are still ranging from 92-96...I go to a lung specialist in the morning and they are wanting to do a lung biopsy...AND put me to sleep. The doctor that put me to sleep went to put a mask on me as soon as I was on the surgery table and I asked him what he was doing and he said he was going to juice me up...My ox level was 96 before surgery and he thought that was a little low...

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I had an episode of MH in 2004. I have since been having muscle cramping and sever pain in my legs and thieghs at night and now they have started all the time I have been unable to find anyone that can give me an answer as to why this is happening other than my muscles are deterrating from my Mh episode and can't tell me what to do other than to take a muscle relaxer and what ever pain pill I happen to have on (tylenel,adevil or aleive) I would like to know just what is happening and why! If anyone has an answer or could help me understand please let me know. Sharon